LP208594-4
Chromosome region 17p11.2
Active
Description
The retinoic acid induced 1 (RAI1) gene, located in the 17p11.2 region, is the causative gene for Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS). SMS and PTLS are characterized by multiple congenital anomalies and mental retardation resulting from either a deletion (SMS) or duplication (PTLS) of the 17p11.2 chromosome region. The disorders are diagnosed using a combination of clinically recognized phenotypes and molecular cytogenetic analyses, including fluorescent in situ hybridization (FISH). Clinically, PTLS presents as a milder syndrome than SMS. Source: Regenstrief LOINC, PMID: 18373405
Basic Part Properties
- Part Display Name
- Chromosome region 17p11.2
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-30
- Construct for LOINC Short Name
- Chr 17p11.2
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP208594-4
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 染色体区域 17p11.2 Synonyms: 染色体区域（染色体部位、 |
| es-ES | Spanish (Spain) | Región cromosómica 17p11.2 |
| it-IT | Italian (Italy) | Regione cromosomica 17p11.2 |
| nl-NL | Dutch (Netherlands) | chromosoomgebied 17p11.2 |
| pl-PL | Polish (Poland) | Region chromosomowy 17p11.2 |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright